Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:primary ovarian insufficiency 8
go back to main search page
Accession:DOID:0080865 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22. (DO)
Synonyms:exact_synonym: POF8;   PRIMARY OVARIAN FAILURE 8;   premature ovarian failure 8
 primary_id: OMIM:615723
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
primary ovarian insufficiency 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag3 stromal antigen 3 ISO ClinVar Annotator: match by term: Premature ovarian failure 8 OMIM
ClinVar
PMID:24597867 PMID:25741868 PMID:28393351 PMID:30006057 NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                primary ovarian insufficiency 8 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      Urogenital Diseases 4704
        Female Urogenital Diseases and Pregnancy Complications 2221
          Female Urogenital Diseases 1837
            female reproductive system disease 1833
              Adnexal Diseases 835
                ovarian disease 826
                  Primary Ovarian Failure 160
                    primary ovarian insufficiency 150
                      primary ovarian insufficiency 8 1
paths to the root